JSON

Miyoshi myopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0009685

Miyoshi myopathy (MM) is a distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. [ Orphanet:45448 ]

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C118846 (MONDO:equivalentTo)
  • OMIMPS:254130 (MONDO:equivalentTo)
  • MESH:C537480 (Orphanet:45448)
  • ICD10:G71.0 (Orphanet:45448)
  • GARD:0009676 (MONDO:equivalentTo)
  • DOID:0070198 (MONDO:equivalentTo)
  • Orphanet:45448 (OMIM:254130)
Subsets

gard_rare, ordo_disease, prototype_pattern

abbreviation
MM [ GARD:0009676 ]

comment

Editor note: consider splitting out type 1

definition

Miyoshi myopathy (MM) is a distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.

exactMatch

http://www.orpha.net/ORDO/Orphanet_45448

http://identifiers.org/mesh/C537480

http://purl.obolibrary.org/obo/NCIT_C118846

http://purl.obolibrary.org/obo/DOID_0070198

has exact synonym

Miyoshi muscular dystrophy

Miyoshi muscular dystrophy type 1

has related synonym

MM

muscular dystrophy, distal, late onset, autosomal recessive

Miyoshi muscular dystrophy 1

MMD1

Miyoshi distal myopathy

id

MONDO:0009685

seeAlso

https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml